Paine Syndrome

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Classification according to ICD-10
Q02 Microcephaly - Hydromicrocephaly - Micrencephaly
G82.19 Spastic paraparesis and paraplegia: unspecified
ICD-10 online (WHO version 2019)

The Paine syndrome , English Microcephaly with spastic diplegia , is a very rare X-linked inherited disorder with the main features of a microcephaly and spastic paraparesis of the legs.

The name refers to the author of the first description from 1960 by the American pediatrician Richmond S. Paine .

distribution

The frequency is unknown and only a few patients have been reported to date. The inheritance is X-linked .

Clinical manifestations

Clinical criteria are:

Diagnosis

The x-ray shows microcephaly with a high palate , abnormal dental arches ; a diffuse abnormal readiness for seizures in the EEG ; In addition, a slight amino aciduria and increased amino acids in the CSF .

literature

  • E. Seemanová, I. Lesný, J. Hyánek, K. Brachfeld, M. Rössler, M. Prosková: X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? In: Human Genetics. Vol. 20, No. 2, 1973, pp. 113-117, PMID 4274173 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ RS PAINE: Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria. In: The New England Journal of Medicine . Vol. 262, March 1960, pp. 658-665, doi: 10.1056 / NEJM196003312621305 , PMID 14429829 .
  3. ↑ Paine's syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links